Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Ronald D. Cohn"'
Autor:
Samar Z. Rizvi, Wing Suen Chan, Eleonora Maino, Sydney Steiman, Georgiana Forguson, Maya Klepfish, Ronald D. Cohn, Evgueni A. Ivakine
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 4, Pp 102356- (2024)
Recent progress in genome editing technologies has catalyzed the generation of sophisticated cell models; however, the precise modeling of copy-number variation (CNV) diseases remains a significant challenge despite their substantial prevalence in th
Externí odkaz:
https://doaj.org/article/16631687f3624b21a3da29b4dc879eca
Autor:
Eleonora Maino, Ori Scott, Samar Z. Rizvi, Wing Suen Chan, Shagana Visuvanathan, Youssif Ben Zablah, Hongbin Li, Ameet S. Sengar, Michael W. Salter, Zhengping Jia, Janet Rossant, Ronald D. Cohn, Bin Gu, Evgueni A. Ivakine
Publikováno v:
Disease Models & Mechanisms, Vol 17, Iss 7 (2024)
Externí odkaz:
https://doaj.org/article/102714651e424d538637bc0d58cdac43
Autor:
Matthew Rok, Tatianna Wai Ying Wong, Eleonora Maino, Abdalla Ahmed, Grace Yang, Elzbieta Hyatt, Kyle Lindsay, Sina Fatehi, Ryan Marks, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 246-258 (2023)
Duchenne muscular dystrophy (DMD) is a disease with a life-threatening trajectory resulting from mutations in the dystrophin gene, leading to degeneration of skeletal muscle and fibrosis of cardiac muscle. The overwhelming majority of mutations are m
Externí odkaz:
https://doaj.org/article/f6f44eb7d6ec40c3ab0d3efbe103235b
Autor:
Ori Scott, Shagana Visuvanathan, Emily Reddy, Deeqa Mahamed, Bin Gu, Chaim M. Roifman, Ronald D. Cohn, Cynthia J. Guidos, Evgueni A. Ivakine
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
IntroductionHumans with gain-of-function (GOF) mutations in STAT1 (Signal Transducer and Activator of Transcription 1), a potent immune regulator, experience frequent infections. About one-third, especially those with DNA-binding domain (DBD) mutatio
Externí odkaz:
https://doaj.org/article/a92971508e374a85a787e6e51acaca8e
Autor:
Ori Scott, Kyle Lindsay, Steven Erwood, Antonio Mollica, Chaim M. Roifman, Ronald D. Cohn, Evgueni A. Ivakine
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-15 (2021)
Abstract Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) is an autosomal dominant immune disorder marked by wide infectious predisposition, autoimmunity, vascular disease, and malignancy. Its molecular hallmark, elev
Externí odkaz:
https://doaj.org/article/f8847bc7541a4ab68fbd2ae0e0ec203f
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 14 (2021)
Externí odkaz:
https://doaj.org/article/46abfd4f1b594d25b6ce0147b4f62167
Autor:
Tatianna Wai Ying Wong, Abdalla Ahmed, Grace Yang, Eleonora Maino, Sydney Steiman, Elzbieta Hyatt, Parry Chan, Kyle Lindsay, Nicole Wong, Diane Golebiowski, Joel Schneider, Paul Delgado-Olguín, Evgueni A. Ivakine, Ronald D. Cohn
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 9 (2020)
Duchenne muscular dystrophy (DMD) is a life-threatening neuromuscular disease caused by the lack of dystrophin, resulting in progressive muscle wasting and locomotor dysfunctions. By adulthood, almost all patients also develop cardiomyopathy, which i
Externí odkaz:
https://doaj.org/article/331a1839953f44fc84ba83fead6d8655
Autor:
Bianca Garcia, Jooyoung Lee, Alireza Edraki, Yurima Hidalgo-Reyes, Steven Erwood, Aamir Mir, Chantel N. Trost, Uri Seroussi, Sabrina Y. Stanley, Ronald D. Cohn, Julie M. Claycomb, Erik J. Sontheimer, Karen L. Maxwell, Alan R. Davidson
Publikováno v:
Cell Reports, Vol 29, Iss 7, Pp 1739-1746.e5 (2019)
Summary: CRISPR-Cas9 systems provide powerful tools for genome editing. However, optimal employment of this technology will require control of Cas9 activity so that the timing, tissue specificity, and accuracy of editing may be precisely modulated. A
Externí odkaz:
https://doaj.org/article/1d87a0cca2244009993f71c2da8de9ea
Autor:
Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito
Publikováno v:
npj Genomic Medicine, Vol 2, Iss 1, Pp 1-8 (2017)
Pediatric medicine: Diagnostic sequencing offers useful pharmacogenetic data, too Genome sequencing, in addition to helping diagnose disease, can inform medication decisions and improve drug safety for children. Ronald Cohn, Shinya Ito and colleagues
Externí odkaz:
https://doaj.org/article/1fff9bfcf8bc47f68f73369bebe62c5a
Autor:
Elizabeth M. MacDonald, Eva Andres-Mateos, Rebeca Mejias, Jessica L. Simmers, Ruifa Mi, Jae-Sung Park, Stephanie Ying, Ahmet Hoke, Se-Jin Lee, Ronald D. Cohn
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 4, Pp 471-481 (2014)
The purpose of our study was to compare two acquired muscle atrophies and the use of myostatin inhibition for their treatment. Myostatin naturally inhibits skeletal muscle growth by binding to ActRIIB, a receptor on the cell surface of myofibers. Bec
Externí odkaz:
https://doaj.org/article/68806a4dbec143459cdd6f07f6a7b7f6